Results 1 to 10 of about 1,109,166 (346)
Patients with disorders of sex development [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 Disorders of sex development (DSDs) are a genetically and clinically heterogeneous group of congenital conditions of the urogenital tract and reproductive system.
Renata Markosyan
doaj +6 more sources
Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for “46,XY Disorders of Sex Development (DSD)”. Recently, there has been some controversy regarding the causative role of MAMLD1 variations in DSDs.
Lele Li +5 more
doaj +3 more sources
Disorders of Sex Development of Adrenal Origin [PDF]
Frontiers in Endocrinology, 2021 Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia.
Gabriela P. Finkielstain +4 more
doaj +3 more sources
Vaginoplasty for disorders of sex development [PDF]
Frontiers in Endocrinology, 2013 One of the most common problem found in patients with Disorders of Sexual Developments (DSD) is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to complete different groups: - patients with a ...
Giacinto A. Marrocco +6 more
doaj +3 more sources
Disorders of sex development [PDF]
Korean Journal of Urology, 2012 The birth of a new baby is one of the most dramatic events in a family, and the first question is usually "is it a boy or a girl?" The newborn infant with ambiguous external genitalia often comes as a surprise for the doctors as well as the parents and is sometimes described as an endocrine emergency situation presenting a problem of sex assignment ...
Grażyna Jarząbek‐Bielecka +2 more
+6 more sources
Ultrasonography for disorders of sex development in pediatrics [PDF]
Frontiers in PediatricsObjectiveThis study aimed to evaluate the clinical value of ultrasonography in the management of disorders of sex development (DSDs).MethodsUltrasonographic appearance and clinical data of 82 cases with DSD were reviewed retrospectively.ResultsIn total ...
Yuting Wu +3 more
doaj +2 more sources
Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report [PDF]
Gynecologic Oncology ReportsThe diagnosis of ovotesticular disorders of sex development can only be confirmed when both testicular and ovarian tissues are present simultaneously in the same individual, regardless of the patient’s karyotype. This report aims to discuss the diagnosis
Yafei Xue +4 more
doaj +2 more sources
Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development [PDF]
JCRPEDisorders of sex development (DSD) are a clinically and genetically highly heterogeneous group of congenital disorders. The most accurate and rapid diagnosis may be possible with a complementary multidisciplinary diagnostic approach, including ...
Deniz Özalp Kızılay, Samim Özen
doaj +2 more sources
Disorders of sex development [PDF]
Best Practice & Research Clinical Obstetrics & Gynaecology, 2018 Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of
Rey, Rodolfo Alberto +3 more
+9 more sources
Editorial: Shared decision making in pediatric differences/disorders of sex development [PDF]
Frontiers in Urology, 2023 Kristina Suorsa-Johnson +5 more
doaj +2 more sources